The work was focused on detailed analysis of patients with rare genomic and gene variants. We studied the impact of these variants on the phenotype of the patients. As the majority of our patients, both syndromic and ...

Autism affects up to 1/150 children and represents therefore a serious social problem. It is a complex disorder with a clearly documented genetic component, but so far unexplained aetiology, which is currently a subject ...

More than 20 human hereditary diseases have been linked to expansions of unstable simple nucleotide repeats. These disorders include several clinically heterogeneous neurological diseases such as the fragile X syndrome ...

During the last years we have observed a rapid development of molecular genetic diagnostics (DNA diagnostics). New methods and technologies are rapidly being introduced and the spectrum of genetic services is gradually ...

This PhD. thesis deals with four different topics for which an increased risk of the development of colorectal cancer (CRC) is the common denominator. The first part is aimed to Cowden syndrome (CS), the second to Peutz-Jeghers ...

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Upozornění / Notice: Získané informace nemohou být použity k výdělečným účelům nebo vydávány za studijní, vědeckou nebo jinou tvůrčí činnost jiné osoby než autora. / Any retrieved information shall not be used for any commercial purposes or claimed as results of studying, scientific or any other creative activities of any person other than the author.

Za dodržení všech ustanovení autorského zákona jsou zodpovědné jednotlivé složky Univerzity Karlovy. / Each constituent part of Charles University is responsible for adherence to all provisions of the copyright law.

Upozornění / Notice: Získané informace nemohou být použity k výdělečným účelům nebo vydávány za studijní, vědeckou nebo jinou tvůrčí činnost jiné osoby než autora. / Any retrieved information shall not be used for any commercial purposes or claimed as results of studying, scientific or any other creative activities of any person other than the author.